Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype.

American journal of medical genetics. Part A - 1 Jan 2023

Schirwani Schaida, Woods Emily, Koolen David A, Ockeloen Charlotte W, Lynch Sally Ann, Kavanagh Karl, Graham John M, Grand Katheryn, Pierson Tyler Mark, Chung Jeffrey M, Balasubramanian Meena

Abstract excerpt

De novo truncating and splicing pathogenic variants in the Additional Sex Combs-Like 3 (ASXL3) gene are known to cause neurodevelopmental delay, intellectual disability, behavioral difficulties, hypotonia, feeding problems and characteristic facial features. We previously reported 45 patients with ASXL3-related disorder including three individuals with a familial variant. Here we report the detailed clinical and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Abnormalities, Multiple
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Developmental Disabilities

Share to Genomics and Rare Diseases

Share to Intellectual Disability

Share to Phenotype

Share to Syndrome

Share to Transcription Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 36177608
DOI: 10.1002/ajmg.a.62981
PMCID: PMC10087684

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype.PMID 36177608Read ↗

ASXL3-related disorder: Molecular phenotyping and comprehensive review providing insights into disease mechanism.Semantic proximity Read ↗

De Novo Nonsense Variant in ASXL3 in a Chinese Girl Causing Bainbridge–Ropers Syndrome: A Case Report and Review of LiteratureSemantic proximity Read ↗

A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome.Semantic proximity Read ↗

Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.Semantic proximity Read ↗

Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.Semantic proximity Read ↗

Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.Semantic proximity Read ↗

Bainbridge-ropers syndrome caused by loss-of-function variants in ASXL3: Clinical abnormalities, medical imaging features, and gene variation in infancy of case report.Semantic proximity Read ↗

[Analysis of ASXL3 gene variant in a child with Bainbridge-Ropers syndrome].Semantic proximity Read ↗

Mosaicism in ASXL3-related syndrome: Description of five patients from three families.Semantic proximity Read ↗

Global developmental delay and postnatal microcephaly: Bainbridge-Ropers syndrome with a new mutation in ASXL3.Semantic proximity Read ↗

Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.Semantic proximity Read ↗

ASXL3 De Novo Variant-Related Neurodevelopmental Disorder Presenting as Dystonic Cerebral Palsy.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.